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Free access | 10.1172/JCI109006
Department of Immunology, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Human Purine Research Center, University of Michigan Medical Center, Ann Arbor, Michigan 48109
Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor, Michigan 48109
Department of Biological Chemistry, University of Michigan Medical Center, Ann Arbor, Michigan 48109
Find articles by Gelfand, E. in: JCI | PubMed | Google Scholar
Department of Immunology, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Human Purine Research Center, University of Michigan Medical Center, Ann Arbor, Michigan 48109
Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor, Michigan 48109
Department of Biological Chemistry, University of Michigan Medical Center, Ann Arbor, Michigan 48109
Find articles by Dosch, H. in: JCI | PubMed | Google Scholar
Department of Immunology, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Human Purine Research Center, University of Michigan Medical Center, Ann Arbor, Michigan 48109
Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor, Michigan 48109
Department of Biological Chemistry, University of Michigan Medical Center, Ann Arbor, Michigan 48109
Find articles by Biggar, W. in: JCI | PubMed | Google Scholar
Department of Immunology, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Human Purine Research Center, University of Michigan Medical Center, Ann Arbor, Michigan 48109
Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor, Michigan 48109
Department of Biological Chemistry, University of Michigan Medical Center, Ann Arbor, Michigan 48109
Find articles by Fox, I. in: JCI | PubMed | Google Scholar
Published April 1, 1978 - More info
Immune function in two brothers with a deficiency of purine nucleoside phosphorylase was evaluated in vivo and in vitro. Both patients had a history of recurrent infections and profound lymphopenia. Studies of cell-mediated immunity revealed an absence of delayed cutaneous reactivity to a number of antigens, including dinitrochlorobenzene, and significantly reduced lymphocyte proliferative responses to nonspecific mitogens, specific antigen, and allogeneic cells. E-rosetting cells were present but reduced in number (20.0% and 31.5%). Serum immunoglobulin levels, percentages of circulating immunoglobulin-and C3-receptor-bearing B cells, as well as the ability to produce antibody in response to specific antigen in vivo were normal. Moreover, studies of the in vitro induction of specific IgM antibody delineated the presence of T-helper and T-regulator cells. The normal induction of bone marrow precursor T-cell maturation by human thymic epithelium-conditioned medium or thymosin suggested that the initial stages of T-cell generation were intact in these patients. Attempts to reconstitute the in vitro proliferative response with a variety of reagents, including purine nucleoside phosphorylase itself, were unsuccessful. Selective impairment of certain aspects of T-cell function in these patients and a less severe clinical picture than previously described may be explained by the presence of a partial deficiency of nucleoside phosphorylase activity and incomplete block of purine catabolism.